Linked Data
ClinVar Variation Id:
284302
ClinVar RCV Id:
RCV000639655
RCV000390549
RCV001168987
RCV001252623
RCV001642885
RCV002418113
RCV004543043
RCV001168490
dbSNP Id:
rs140913250
ExAC:
9:35068298 T / C
gnomAD v2:
9-35068298-T-C
gnomAD v3:
9-35068301-T-C
gnomAD v4:
9-35068301-T-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35068301T>C , CM000671.2:g.35068301T>C | GRCh38 |
| NC_000009.11:g.35068298T>C , CM000671.1:g.35068298T>C | GRCh37 |
| NC_000009.10:g.35058298T>C | NCBI36 |
| NG_007887.1:g.9442A>G , LRG_657:g.9442A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.79A>G MANE Select | ENSP00000351777.6:p.Ile27Val | |
| ENST00000417448.2:c.-57A>G | ENSP00000399456.2:n.-57A>G | |
| ENST00000448530.6:c.-57A>G | ENSP00000392088.2:n.-57A>G | |
| ENST00000480327.2:n.351A>G | ||
| ENST00000676836.2:n.342A>G | ||
| ENST00000677257.1:c.79A>G | ENSP00000504354.1:p.Ile27Val | |
| ENST00000678018.1:c.79A>G | ENSP00000503811.1:p.Ile27Val | |
| ENST00000678465.1:c.79A>G | ENSP00000504259.1:p.Ile27Val | |
| ENST00000678650.1:c.-57A>G | ENSP00000503426.1:n.-57A>G | |
| ENST00000679204.2:c.79A>G | ENSP00000503131.2:p.Ile27Val | |
| ENST00000679392.1:n.221A>G | ||
| ENST00000679449.1:c.62A>G | ||
| ENST00000679599.1:n.349A>G | ||
| ENST00000679647.1:c.79A>G | ENSP00000506216.1:p.Ile27Val | |
| ENST00000679800.1:n.317A>G | ||
| ENST00000679862.1:c.-57A>G | ENSP00000504990.1:n.-57A>G | |
| ENST00000679901.1:n.408A>G | ||
| ENST00000679902.1:c.79A>G | ENSP00000506338.1:p.Ile27Val | |
| ENST00000680079.1:c.171A>G | ENSP00000506523.1:p.Ter57= | |
| ENST00000680108.1:n.365A>G | ||
| ENST00000680575.1:n.460A>G | ||
| ENST00000680900.1:c.62A>G | ||
| ENST00000680916.1:c.79A>G | ENSP00000505769.1:p.Ile27Val | |
| ENST00000681335.1:c.79A>G | ENSP00000505230.1:p.Ile27Val | |
| ENST00000681386.1:c.-6-238A>G | ENSP00000505509.1:n.-6-238A>G | |
| ENST00000681690.1:n.351A>G | ||
| ENST00000681845.1:c.245A>G | ||
| ENST00000358901.10:c.79A>G | ENSP00000351777.6:p.Ile27Val | |
| ENST00000417448.1:c.-57A>G | ENSP00000399456.1:n.-57A>G | |
| ENST00000448530.5:c.-57A>G | ENSP00000392088.1:n.-57A>G | |
| ENST00000493886.5:n.275A>G | ||
| NM_007126.3:c.79A>G , LRG_657t1:c.79A>G | NP_009057.1:p.Ile27Val | |
| NM_001354927.1:c.-57A>G | NP_001341856.1:n.-57A>G | |
| NM_001354928.1:c.-57A>G | NP_001341857.1:n.-57A>G | |
| NM_007126.4:c.79A>G | NP_009057.1:p.Ile27Val | |
| NM_007126.5:c.79A>G MANE Select | NP_009057.1:p.Ile27Val | |
| NM_001354927.2:c.-57A>G | NP_001341856.1:n.-57A>G | |
| NM_001354928.2:c.-57A>G | NP_001341857.1:n.-57A>G |